Salt wasting and deafness resulting from mutations in two chloride channels - Wikidata - wikimedia - TriplyDB

Salt wasting and deafness resulting from mutations in two chloride channels

Salt wasting and deafness resulting from mutations in two chloride channels

http://www.wikidata.org/entity/Q28252859

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Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations Molecular mechanisms and regulation of urinary acidification The renal channelopathies Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.Discovery of CLC transport proteins: cloning, structure, function and pathophysiology Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination Emerging Targets of Diuretic Therapy.Potassium ion movement in the inner ear: insights from genetic disease and mouse models Molecular biology of hearing.Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.Molecular pathophysiology of Bartter's and Gitelman's syndromes.Antenatal Bartter's syndrome with sensorineural deafness.Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption.CLC channel function and dysfunction in health and disease.Tubular transport: core curriculum 2010.Computational model of vectorial potassium transport by cochlear marginal cells and vestibular dark cells.Mendelian Inheritance in Man and its online version, OMIM Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.Physiology and pathophysiology of ClC-K/barttin channels.A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration The genomic architecture of sporadic heart failure A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.Molecular architecture of the stria vascularis membrane transport system, which is essential for physiological functions of the mammalian cochlea.Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional Ion channels: function unravelled by dysfunction.Molecular Physiology of an Extra-renal Cl(-) Uptake Mechanism for Body Fluid Cl(-) Homeostasis.Salt handling in the distal nephron: lessons learned from inherited human disorders.Chloride channel diseases resulting from impaired transepithelial transport or vesicular function Ion channels in renal disease.Regulation of transport in the connecting tubule and cortical collecting duct Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential.Identification of ClC-2 and CIC-K2 chloride channels in cultured rat type IV spiral ligament fibrocytes.Digenic inheritance in medical genetics Stria vascularis and vestibular dark cells: characterisation of main structures responsible for inner-ear homeostasis, and their pathophysiological relations.

P2860

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P2860

Salt wasting and deafness resulting from mutations in two chloride channels

http://www.wikidata.org/entity/Q28252859

description

2004 nî lūn-bûn

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2004 թուականի Մարտին հրատարակուած գիտական յօդուած

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2004 թվականի մարտին հրատարակված գիտական հոդված

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2004年の論文

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2004年学术文章

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2004年学术文章

@zh-cn

2004年学术文章

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2004年学术文章

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2004年学术文章

@zh-sg

2004年學術文章

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name

Salt wasting and deafness resulting from mutations in two chloride channels

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Salt wasting and deafness resulting from mutations in two chloride channels

@en

Salt wasting and deafness resulting from mutations in two chloride channels

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type

label

Salt wasting and deafness resulting from mutations in two chloride channels

@ast

Salt wasting and deafness resulting from mutations in two chloride channels

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Salt wasting and deafness resulting from mutations in two chloride channels

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Salt wasting and deafness resulting from mutations in two chloride channels

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Salt wasting and deafness resulting from mutations in two chloride channels

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Salt wasting and deafness resulting from mutations in two chloride channels

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P1433

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P1433

The New England Journal of Medicine

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Salt wasting and deafness resulting from mutations in two chloride channels

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P2093

Hannsjörg W Seyberth

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Karl P Schlingmann

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Martin Holder

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Martin Konrad

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Nikola Jeck

http://www.w3.org/2001/XMLSchema#string

Petra Waldegger

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Siegfried Waldegger

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Stephan C Reinalter

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1314-9

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scholarly article

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10.1056/NEJMOA032843

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13

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350

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2004-03-25T00:00:00Z

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15044642

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